A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population
Abstract
Variants in the TTN gene have been associated with distal myopathies and other distinctive phenotypes involving skeletal and cardiac muscle. Through whole-exome sequencing we identified a novel stop-gain variant (c.107635C>T, p.(Gln35879Ter)) in the TTN gene, coding a part of the M-line of titin, in 14 patients with autosomal recessive distal myopathy and Serbian ancestry. All patients share a common 1 Mb core haplotype associated with...
Paper Details
Title
A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population
Published Date
Mar 15, 2017
Volume
25
Issue
5
Pages
572 - 581
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